Varaico: Literature-Extracted Genetic Variants

Gene:RASGRP3
Variant:p.E164D

RASGRP3

77 papers

RefSeq Summary

The protein encoded by this gene is a guanine nucleotide exchange factor that activates the oncogenes HRAS and RAP1A. Defects in this gene have been associated with systemic lupus erythematosus and se...

Pfam Domains

RasGEFaa 155–331UCSCRasGEF domain
C1_1aa 495–547UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

RAS guanyl releasing protein 3

HGNC Alias Symbols

KIAA0846; GRP3; CalDAG-GEFIII

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001139488.2
p.E164D
c.492G>C
Surrounding Variants
1 paper
NM_001139488.2
p.E164D
c.492G>T
1 paper
NM_001139488.2
p.I154T
c.461T>C
1 paper
NM_001139488.2
p.V138fs
c.412_413fs
1 paper
NM_001139488.2
p.K136delFs
c.406delA
1 paper
NM_001139488.2
p.R135K
c.404G>A
1 paper
NM_001139488.2
p.Q134K
c.400C>A
1 paper
NM_001139488.2
p.T133K
c.398C>A
1 paper
NM_001139488.2
p.T133A
c.397A>G
1 paper
NM_001139488.2
p.W128R
c.382T>A
1 paper
NM_001139488.2
p.P124L
c.371C>T
1 paper
NM_001139488.2
p.I123Splc
c.369-1G>A
1 paper
NM_001139488.2
p.S122N
c.365G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."